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219 Possible Causes for Seizure, Variable Psychomotor Retardation

  • West Syndrome

    […] clinical manifestations such as hypotonia, psychomotor retardation, and feeding difficulties.[] On the tenth day of treatment, he developed frequent partial seizures, characterized by being motionless during the seizure with eye deviation to the right.[] The generalized tonic seizures began with bi-frontal polyspikes on EEG. Our diagnosis was lissencephaly presenting with West syndrome and generalized tonic seizures.[]

  • Leigh's Disease

    Clinical presentation is variable; patients often exhibit psychomotor retardation, vomiting, failure to thrive, and signs of brain stem and basal ganglia dysfunction. 4 Ophthalmologic[] Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.[] Affected patients exhibit a variable clinical picture that frequently includes psychomotor retardation or regression, recurrent episodes of vomiting, failure to thrive, signs[]

  • Hypothalamic Hamartoma

    From the earliest stages, 4 patients experienced psychomotor retardation. One female patient had a previous diagnosis of neurofibromatosis type 1.[] seizures.[] Six patients (67%) were seizure-free after surgery.[]

  • Lissencephaly

    Clinical manifestations include swallowing and feeding difficulties, abnormal muscular tone, seizures and severe to profound psychomotor retardation.[] It is to consider lissencephaly in the diagnosis of developmental delay with seizure disorder as many patients may be diagnosed as cerebral palsy.[] Seizures may be particularly problematic but anticonvulsant medications can help.[]

  • Myoclonic-Astatic Epilepsy

    retardation mainly affecting speech.[] The patient was a 12-year-old female who developed myoclonic and astatic seizures including nodding and sudden falling at the age of 4.[] […] possibility of a paradoxical seizure exacerbation.[]

  • Isovaleric Acidemia

    Most patients with chronic intermittent IVA have normal psychomotor development, but some have developmental delay and mild or even severe mental retardation.[] The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy).[] The variability of this disorder is highlighted by the occurrence of a sudden metabolic crisis in a previously well-controlled 18 year old man with IVA who developed acute[]

  • Early Infantile Epileptic Encephalopathy Type 2

    […] degree of psychomotor delay and cognitive impairment, ranging from mild to severe mental retardation [23].[] EEG at 27 months returned to the previous SB pattern with rare partial seizures.[] Other seizure types that may occur include partial seizures, clusters of infantile spasms, and, rarely, myoclonic seizures.[]

  • Fucosidosis

    Clinical features consist of variable mental retardation (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9[] Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features[] […] variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures[]

  • Alexander Disease

    Variable presentations, in decreasing order of frequency, include the following: Progressive psychomotor retardation with loss of developmental milestones Frontal bossing[] Alexander disease is a leukoencephalopathy that usually presents during infancy with developmental delay, macrocephaly and seizures.[] Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually leads to death within the first[]

  • Kearns-Sayre Syndrome

    PEO1 (see POLG -Related Disorders ) POLG AD AR Highly variable phenotypes CPEO presentation: generalized myopathy, sensorineural hearing loss, axonal neuropathy, ataxia,[] 53 ページ - Neurological abnormalities are prominent, including severe hypotonia, areflexia, poor suck rellex and seizures.[] […] weakness Heart block (a cardiac conduction defect) Short stature Hearing loss An inability to coordinate voluntary movements (ataxia) Impaired cognitive function Diabetes Seizures[]

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